Uploaded October 2025 | Updated September 2026, 1 hour ago
At PRISM 2025 Athens, Professor Robert Pitceathly of University College London explains how the PacBio Revio system is advancing diagnostics for primary mitochondrial diseases. Discover how HiFi long-read sequencing enables a more unified approach, aiming to replace the current multistep, time-consuming, and expensive testing paradigm with a single, comprehensive analysis.
Professor Pitceathly details the complex challenges in this field, including the need for accurate quantification of heteroplasmic variants, the detection of large structural rearrangements, and the difficulty of phasing nuclear gene variants. He highlights how traditional methods require numerous separate tests for mitochondrial and nuclear DNA, often delaying diagnosis and complicating prognostication for patients.
Through several use cases, the presentation demonstrates how the high accuracy and long-read capabilities of the Revio system address these issues. Learn how HiFi data resolves the structure of large deletions and duplications, quantifies their levels, and simultaneously identifies disease-causing nuclear variants and their downstream effects on mitochondrial DNA—all within a single workflow. This approach can help improves diagnostic certainty and offers a clearer understanding of disease mechanisms.
00:00 Introduction by Professor Robert Pitceathly
00:48 UK mitochondrial disease cohorts and research
04:28 Primary mitochondrial diseases: an overview
06:18 Complexities of mitochondrial genetics
09:32 Current challenges in mitochondrial disease diagnostics
12:24 How Revio addresses diagnostic gaps
13:46 Use case 1: resolving a large mtDNA deletion
15:28 Use case 2: characterizing an mtDNA duplication
18:22 Use case 3: a unified nuclear & mtDNA analysis
20:29 Conclusion: toward a single-test diagnostic
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
At PRISM 2025 Athens, Professor Robert Pitceathly of University College London explains how the PacBio Revio system is advancing diagnostics for primary mitochondrial diseases. Discover how HiFi long-read sequencing enables a more unified approach, aiming to replace the current multistep, time-consuming, and expensive testing paradigm with a single, comprehensive analysis.
Professor Pitceathly details the complex challenges in this field, including the need for accurate quantification of heteroplasmic variants, the detection of large structural rearrangements, and the difficulty of phasing nuclear gene variants. He highlights how traditional methods require numerous separate tests for mitochondrial and nuclear DNA, often delaying diagnosis and complicating prognostication for patients.
Through several use cases, the presentation demonstrates how the high accuracy and long-read capabilities of the Revio system address these issues. Learn how HiFi data resolves the structure of large deletions and duplications, quantifies their levels, and simultaneously identifies disease-causing nuclear variants and their downstream effects on mitochondrial DNA—all within a single workflow. This approach can help improves diagnostic certainty and offers a clearer understanding of disease mechanisms.
00:00 Introduction by Professor Robert Pitceathly
00:48 UK mitochondrial disease cohorts and research
04:28 Primary mitochondrial diseases: an overview
06:18 Complexities of mitochondrial genetics
09:32 Current challenges in mitochondrial disease diagnostics
12:24 How Revio addresses diagnostic gaps
13:46 Use case 1: resolving a large mtDNA deletion
15:28 Use case 2: characterizing an mtDNA duplication
18:22 Use case 3: a unified nuclear & mtDNA analysis
20:29 Conclusion: toward a single-test diagnostic
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
